ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827140200
Gene: ACTN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446784
ClinVar RCV Id:
RCV000517416
RCV002476035
RCV001851421
RCV003343883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308962.1:p.Trp623Leu
CA9417797
NM_001322033.2:c.1868G>T